Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: the possible role for UBA2 gene

por Melo, Joana B, Estevinho, Alexandra, Saraiva, Jorge, Ramos, Lina, Carreira, Isabel M
Publicado 2015

Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region

por Ferreira, Susana Isabel, Matoso, Eunice, Venâncio, Margarida, Saraiva, Jorge, Melo, Joana B, Carreira, Isabel Marques
Publicado 2012

X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation

por Ferreira, Susana I, Matoso, Eunice, Pinto, Marta, Almeida, Joana, Liehr, Thomas, Melo, Joana B, Carreira, Isabel M
Publicado 2010

Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth

por Matoso, Eunice, Ramos, Fabiana, Ferrão, José, Pires, Luís M, Mascarenhas, Alexandra, Melo, Joana B, Carreira, Isabel M
Publicado 2014

Genomic profile of oral squamous cell carcinomas with an adjacent leukoplakia or with an erythroleukoplakia that evolved after the treatment of primary tumor: A report of two cases

por Ribeiro, Ilda P., Marques, Francisco, Barroso, Leonor, Rodrigues, Joana, Caramelo, Francisco, Melo, Joana B., Carreira, Isabel M.
Publicado 2017

Metabolic responses of A549 lung cells to cisplatin and radiation exposure studied by (1)H NMR spectroscopy

por Ladeirinha, Ana F, Lamego, Inês D, Gil, Ana M, Melo, Joana B, Carreira, Isabel M, Duarte, Iola F
Publicado 2010

Isochromosome 17q in Chronic Lymphocytic Leukemia

por Alhourani, Eyad, Rincic, Martina, Melo, Joana B., Carreira, Isabel M., Glaser, Anita, Pohle, Beate, Schlie, Cordula, Liehr, Thomas
Publicado 2015

MLPA analysis in a cohort of patients with autism

por Peixoto, Sara, Melo, Joana B., Ferrão, José, Pires, Luís M., Lavoura, Nuno, Pinto, Marta, Oliveira, Guiomar, Carreira, Isabel M.
Publicado 2017

DEPDC5 variant in focal cortical dysplasia: a case report and review of the literature

por Jesus-Ribeiro, Joana, Pereira, Cristina, Robalo, Conceição, Pereira, Daniela J, Duro, Diana, Ramos, Fabiana, Freire, António, Melo, Joana B
Publicado 2021

Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 → qter) detected in an autistic boy

por Carreira, Isabel M, Melo, Joana B, Rodrigues, Carlos, Backx, Liesbeth, Vermeesch, Joris, Weise, Anja, Kosyakova, Nadezda, Oliveira, Guiomar, Matoso, Eunice
Publicado 2009

A Novel Cryptic Three-Way Translocation t(2;9;18)(p23.2;p21.3;q21.33) with Deletion of Tumor Suppressor Genes in 9p21.3 and 13q14 in a T-Cell Acute Lymphoblastic Leukemia

por Othman, Moneeb A. K., Rincic, Martina, Melo, Joana B., Carreira, Isabel M., Alhourani, Eyad, Hunstig, Friederike, Glaser, Anita, Liehr, Thomas
Publicado 2014

Genetic and epigenetic characterization of the tumors in a patient with a tongue primary tumor, a recurrence and a pharyngoesophageal second primary tumor

por Ribeiro, Ilda P., Marques, Francisco, Barroso, Leonor, Miguéis, Jorge, Caramelo, Francisco, Santos, André, Julião, Maria J., Melo, Joana B., Carreira, Isabel M.
Publicado 2017

Molecular cytogenetic pilot study on pleomorphic adenomas of salivary glands

por Thielker, Jovanna, Weise, Anja, Othman, Moneeb A.K., Carreria, Isabel M., Melo, Joana B., Von Eggeling, Ferdinand, Guntinas-Lichius, Orlando, Ziegler, Monika, Liehr, Thomas
Publicado 2020

An acquired stable variant of a dicentric dic(9;20) and complex karyotype in a Syrian childhood B-acute lymphoblastic leukemia case

por Wafa, Abdulsamad, Jarjour, Rami A., Aljapawe, Abdulmunim, ALmedania, Suher, Liehr, Thomas, Melo, Joana B., Carreira, Isabel M., Othman, Moneeb A. K., Al-Achkar, Walid
Publicado 2020

A new childhood ALL case with an extremely complex karyotype and acute spontaneous tumor lysis syndrome

por Wafa, Abdulsamad, Jarjour, Rami A., Alolabi, Doaa, Liehr, Thomas, Hamdan, Othman, Melo, Joana B., Carreira, Isabel M., Othman, Moneeb A. K., Al-Achkar, Walid
Publicado 2020

Mitochondrial Alterations in Fibroblasts of Early Stage Bipolar Disorder Patients

por Marques, Ana P., Resende, Rosa, Silva, Diana F., Batista, Mariana, Pereira, Daniela, Wildenberg, Brigite, Morais, Sofia, Macedo, António, Pais, Cláudia, Melo, Joana B., Madeira, Nuno, Pereira, Cláudia F.
Publicado 2021

BIRC3 alterations in chronic and B-cell acute lymphocytic leukemia patients

por ALHOURANI, EYAD, OTHMAN, MONEEB A.K., MELO, JOANA B., CARREIRA, ISABEL M., GRYGALEWICZ, BEATA, VUJIĆ, DRAGANA, ZECEVIĆ, ZELJKO, JOKSIĆ, GORDANA, GLASER, ANITA, POHLE, BEATE, SCHLIE, CORDULA, HAUKE, SVEN, LIEHR, THOMAS
Publicado 2016

The Enhanced Efficacy of Intracellular Delivery of Doxorubicin/C6-Ceramide Combination Mediated by the F3 Peptide/Nucleolin System Is Supported by the Downregulation of the PI3K/Ak...

por Cruz, Ana F., Caleiras, Mariana B., Fonseca, Nuno A., Gonçalves, Nélio, Mendes, Vera M., Sampaio, Susana F., Moura, Vera, Melo, Joana B., Almeida, Ramiro D., Manadas, Bruno, Simões, Sérgio, Moreira, João N.
Publicado 2021

High rates of submicroscopic aberrations in karyotypically normal acute lymphoblastic leukemia

por Othman, Moneeb A. K., Melo, Joana B., Carreira, Isabel M., Rincic, Martina, Glaser, Anita, Grygalewicz, Beata, Gruhn, Bernd, Wilhelm, Kathleen, Rittscher, Katharina, Meyer, Britta, Silva, Maria Luiza Macedo, de Jesus Marques Salles, Terezinha, Liehr, Thomas
Publicado 2015

Nucleolin Overexpression Predicts Patient Prognosis While Providing a Framework for Targeted Therapeutic Intervention in Lung Cancer

por Valério-Fernandes, Ângela, Fonseca, Nuno A., Gonçalves, Nélio, Cruz, Ana F., Pereira, Marta I., Gregório, Ana C., Moura, Vera, Ladeirinha, Ana F., Alarcão, Ana, Gonçalves, Joana, Abrunhosa, Antero, Melo, Joana B., Carvalho, Lina, Simões, Sérgio, Moreira, João N.
Publicado 2022